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MIRAGE
Hermansky-Pudlak syndrome

Summary
Definition
A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin.
Super Class
autosomal recessive disease syndrome
Disease Ontology
DOID:3753
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
8546 AP3B1 adaptor related protein complex 3 subunit beta 1
11234 HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2
89781 HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2
Related Glycoprotein
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 8, 2025